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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:FRMD8-DPF2 (FusionGDB2 ID:31379)

Fusion Gene Summary for FRMD8-DPF2

check button Fusion gene summary
Fusion gene informationFusion gene name: FRMD8-DPF2
Fusion gene ID: 31379
HgeneTgene
Gene symbol

FRMD8

DPF2

Gene ID

83786

5977

Gene nameFERM domain containing 8double PHD fingers 2
SynonymsFKSG44|iTAPCSS7|REQ|UBID4|ubi-d4
Cytomap

11q13.1

11q13.1

Type of geneprotein-codingprotein-coding
DescriptionFERM domain-containing protein 8band4.1 inhibitor LRP interactorbiliiRhom Tail-Associated Proteinzinc finger protein ubi-d4BAF45DBRG1-associated factor 45DD4, zinc and double PHD fingers family 2apoptosis response zinc finger proteinprotein requiemrequiem, apoptosis response zinc finger
Modification date2020031320200313
UniProtAcc

Q9BZ67

Q92785

Ensembl transtripts involved in fusion geneENST00000317568, ENST00000355991, 
ENST00000416776, ENST00000531296, 
ENST00000532264, ENST00000252268, 
ENST00000415073, ENST00000528416, 
Fusion gene scores* DoF score11 X 8 X 8=7048 X 7 X 7=392
# samples 1610
** MAII scorelog2(16/704*10)=-2.13750352374993
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(10/392*10)=-1.97085365434048
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FRMD8 [Title/Abstract] AND DPF2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointFRMD8(65172539)-DPF2(65119154), # samples:3
Anticipated loss of major functional domain due to fusion event.FRMD8-DPF2 seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor due to the frame-shifted ORF.
FRMD8-DPF2 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneFRMD8

GO:1904469

positive regulation of tumor necrosis factor secretion

29897333


check buttonFusion gene breakpoints across FRMD8 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across DPF2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4LIHCTCGA-DD-A11C-01AFRMD8chr11

65172539

-DPF2chr11

65119154

+
ChimerDB4LIHCTCGA-DD-A11C-01AFRMD8chr11

65172539

+DPF2chr11

65119154

+
ChimerDB4LUADTCGA-93-A4JO-01AFRMD8chr11

65154592

-DPF2chr11

65119154

+
ChimerDB4LUADTCGA-93-A4JO-01AFRMD8chr11

65161570

+DPF2chr11

65119154

+


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Fusion Gene ORF analysis for FRMD8-DPF2

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5CDS-intronENST00000317568ENST00000532264FRMD8chr11

65172539

+DPF2chr11

65119154

+
5CDS-intronENST00000317568ENST00000532264FRMD8chr11

65154592

-DPF2chr11

65119154

+
5CDS-intronENST00000317568ENST00000532264FRMD8chr11

65161570

+DPF2chr11

65119154

+
5CDS-intronENST00000355991ENST00000532264FRMD8chr11

65172539

+DPF2chr11

65119154

+
5CDS-intronENST00000355991ENST00000532264FRMD8chr11

65154592

-DPF2chr11

65119154

+
5CDS-intronENST00000355991ENST00000532264FRMD8chr11

65161570

+DPF2chr11

65119154

+
5CDS-intronENST00000416776ENST00000532264FRMD8chr11

65172539

+DPF2chr11

65119154

+
5CDS-intronENST00000416776ENST00000532264FRMD8chr11

65154592

-DPF2chr11

65119154

+
5CDS-intronENST00000416776ENST00000532264FRMD8chr11

65161570

+DPF2chr11

65119154

+
5CDS-intronENST00000531296ENST00000532264FRMD8chr11

65154592

-DPF2chr11

65119154

+
Frame-shiftENST00000317568ENST00000252268FRMD8chr11

65172539

+DPF2chr11

65119154

+
Frame-shiftENST00000317568ENST00000252268FRMD8chr11

65154592

-DPF2chr11

65119154

+
Frame-shiftENST00000317568ENST00000415073FRMD8chr11

65172539

+DPF2chr11

65119154

+
Frame-shiftENST00000317568ENST00000415073FRMD8chr11

65154592

-DPF2chr11

65119154

+
Frame-shiftENST00000317568ENST00000415073FRMD8chr11

65161570

+DPF2chr11

65119154

+
Frame-shiftENST00000317568ENST00000528416FRMD8chr11

65161570

+DPF2chr11

65119154

+
Frame-shiftENST00000355991ENST00000252268FRMD8chr11

65172539

+DPF2chr11

65119154

+
Frame-shiftENST00000355991ENST00000252268FRMD8chr11

65154592

-DPF2chr11

65119154

+
Frame-shiftENST00000355991ENST00000415073FRMD8chr11

65172539

+DPF2chr11

65119154

+
Frame-shiftENST00000355991ENST00000415073FRMD8chr11

65154592

-DPF2chr11

65119154

+
Frame-shiftENST00000355991ENST00000415073FRMD8chr11

65161570

+DPF2chr11

65119154

+
Frame-shiftENST00000355991ENST00000528416FRMD8chr11

65161570

+DPF2chr11

65119154

+
Frame-shiftENST00000416776ENST00000252268FRMD8chr11

65172539

+DPF2chr11

65119154

+
Frame-shiftENST00000416776ENST00000252268FRMD8chr11

65154592

-DPF2chr11

65119154

+
Frame-shiftENST00000416776ENST00000415073FRMD8chr11

65172539

+DPF2chr11

65119154

+
Frame-shiftENST00000416776ENST00000415073FRMD8chr11

65154592

-DPF2chr11

65119154

+
Frame-shiftENST00000416776ENST00000415073FRMD8chr11

65161570

+DPF2chr11

65119154

+
Frame-shiftENST00000416776ENST00000528416FRMD8chr11

65161570

+DPF2chr11

65119154

+
Frame-shiftENST00000531296ENST00000415073FRMD8chr11

65154592

-DPF2chr11

65119154

+
Frame-shiftENST00000531296ENST00000528416FRMD8chr11

65154592

-DPF2chr11

65119154

+
In-frameENST00000317568ENST00000252268FRMD8chr11

65161570

+DPF2chr11

65119154

+
In-frameENST00000317568ENST00000528416FRMD8chr11

65172539

+DPF2chr11

65119154

+
In-frameENST00000317568ENST00000528416FRMD8chr11

65154592

-DPF2chr11

65119154

+
In-frameENST00000355991ENST00000252268FRMD8chr11

65161570

+DPF2chr11

65119154

+
In-frameENST00000355991ENST00000528416FRMD8chr11

65172539

+DPF2chr11

65119154

+
In-frameENST00000355991ENST00000528416FRMD8chr11

65154592

-DPF2chr11

65119154

+
In-frameENST00000416776ENST00000252268FRMD8chr11

65161570

+DPF2chr11

65119154

+
In-frameENST00000416776ENST00000528416FRMD8chr11

65172539

+DPF2chr11

65119154

+
In-frameENST00000416776ENST00000528416FRMD8chr11

65154592

-DPF2chr11

65119154

+
In-frameENST00000531296ENST00000252268FRMD8chr11

65154592

-DPF2chr11

65119154

+
intron-3CDSENST00000531296ENST00000252268FRMD8chr11

65172539

+DPF2chr11

65119154

+
intron-3CDSENST00000531296ENST00000252268FRMD8chr11

65161570

+DPF2chr11

65119154

+
intron-3CDSENST00000531296ENST00000415073FRMD8chr11

65172539

+DPF2chr11

65119154

+
intron-3CDSENST00000531296ENST00000415073FRMD8chr11

65161570

+DPF2chr11

65119154

+
intron-3CDSENST00000531296ENST00000528416FRMD8chr11

65172539

+DPF2chr11

65119154

+
intron-3CDSENST00000531296ENST00000528416FRMD8chr11

65161570

+DPF2chr11

65119154

+
intron-intronENST00000531296ENST00000532264FRMD8chr11

65172539

+DPF2chr11

65119154

+
intron-intronENST00000531296ENST00000532264FRMD8chr11

65161570

+DPF2chr11

65119154

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for FRMD8-DPF2


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
FRMD8chr1165161570+DPF2chr1165119153+0.0027061620.9972938
FRMD8chr1165172539+DPF2chr1165119153+5.63E-101
FRMD8chr1165161570+DPF2chr1165119153+0.0027061620.9972938
FRMD8chr1165172539+DPF2chr1165119153+5.63E-101

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.
genomic feature

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

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Fusion Protein Features for FRMD8-DPF2


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr11:65172539/chr11:65119154)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FRMD8

Q9BZ67

DPF2

Q92785

FUNCTION: Promotes the cell surface stability of iRhom1/RHBDF1 and iRhom2/RHBDF2 and prevents their degradation via the endolysosomal pathway. By acting on iRhoms, involved in ADAM17-mediated shedding of TNF, amphiregulin/AREG, HBEGF and TGFA from the cell surface (PubMed:29897333, PubMed:29897336). Negatively regulates Wnt signaling, possibly by antagonizing the recruitment of AXIN1 to LRP6 (PubMed:19572019). {ECO:0000269|PubMed:19572019, ECO:0000269|PubMed:29897333, ECO:0000269|PubMed:29897336}.FUNCTION: Plays an active role in transcriptional regulation by binding modified histones H3 and H4 (PubMed:28533407, PubMed:27775714). Is a negative regulator of myeloid differentiation of hematopoietic progenitor cells (PubMed:28533407). Might also have a role in the development and maturation of lymphoid cells (By similarity). Involved in the regulation of non-canonical NF-kappa-B pathway (PubMed:20460684). {ECO:0000250|UniProtKB:Q61103, ECO:0000269|PubMed:20460684, ECO:0000269|PubMed:27775714, ECO:0000269|PubMed:28533407}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page


* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneFRMD8chr11:65172539chr11:65119154ENST00000317568+101130_376425465.0DomainFERM

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneFRMD8chr11:65154592chr11:65119154ENST00000317568-21130_37628465.0DomainFERM
HgeneFRMD8chr11:65154592chr11:65119154ENST00000355991-21030_37628409.0DomainFERM
HgeneFRMD8chr11:65161570chr11:65119154ENST00000317568+51130_376138465.0DomainFERM
HgeneFRMD8chr11:65161570chr11:65119154ENST00000355991+41030_37682409.0DomainFERM
HgeneFRMD8chr11:65172539chr11:65119154ENST00000355991+91030_376369409.0DomainFERM
TgeneDPF2chr11:65154592chr11:65119154ENST00000528416911209_232366392.0Zinc fingerC2H2-type
TgeneDPF2chr11:65154592chr11:65119154ENST00000528416911270_330366392.0Zinc fingerPHD-type 1
TgeneDPF2chr11:65154592chr11:65119154ENST00000528416911327_377366392.0Zinc fingerPHD-type 2
TgeneDPF2chr11:65161570chr11:65119154ENST00000528416911209_232366392.0Zinc fingerC2H2-type
TgeneDPF2chr11:65161570chr11:65119154ENST00000528416911270_330366392.0Zinc fingerPHD-type 1
TgeneDPF2chr11:65161570chr11:65119154ENST00000528416911327_377366392.0Zinc fingerPHD-type 2
TgeneDPF2chr11:65172539chr11:65119154ENST00000528416911209_232366392.0Zinc fingerC2H2-type
TgeneDPF2chr11:65172539chr11:65119154ENST00000528416911270_330366392.0Zinc fingerPHD-type 1
TgeneDPF2chr11:65172539chr11:65119154ENST00000528416911327_377366392.0Zinc fingerPHD-type 2


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Fusion Gene Sequence for FRMD8-DPF2


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for FRMD8-DPF2


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for FRMD8-DPF2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for FRMD8-DPF2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource